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NM_000053.3:c.509delA
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NM_000053.3:c.509delA
HGVS Expressions
NG_008806.1:g.41782delA
NM_000053.3:c.509delA
NP_000044.2:p.Gly170fs
Associated Genes
ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Genomic Location
Chr13:51974713
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277900.1
Egypt
2
Pathogenic
Wilson Disease
Abdel Ghaffar et al. 2011
Download Table
Contributors
Pratibha Nair: 13.06.2018
Edit History
Rahila Mir: 22.02.2022
Pratibha Nair: 27.12.2018
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Mauritania
Morocco
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Palestine
Qatar
Saudi Arabia
Somalia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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